Screening and Genetic Diagnosis of Hemoglobinopathies in Southern and Northern Europe: Two Examples

Prevention of Hemoglobinopathies has developed around the world based upon the experience done in pioneering endemic countries and is now facing a new phase in non-endemic areas with a recent immigration history. We describe two situations, taking Latium (central Italy) and The Netherlands as two models for endemic and non-endemic countries both confronted with a large multi-ethnic immigrant society. We present prevention results and discuss aspects such as local knowledge and organization. We illustrate the importance of issues like information, carrier diagnostics, screening, counseling and prenatal diagnosis in particular situation of contrasting interest an different ethical opinions. We conclude by underlining the importance of implementing primary prevention at the European level, based upon better information, diagnostics and counseling

The variable finesse locking technique

Virgo is a power recycled Michelson interferometer, with 3 km long Fabry-Perot cavities in the arms. The locking of the interferometer has been obtained with an original lock acquisition technique. The main idea is to lock the instrument away from its working point. Lock is obtained by misaligning the power recycling mirror and detuning the Michelson from the dark fringe. In this way, a good fraction of light escapes through the antisymmetric port and the power build-up inside the recycling cavity is extremely low. The benefit is that all the degrees of freedom are controlled when they are almost decoupled, and the linewidth of the recycling cavity is large. The interferometer is then adiabatically brought on to the dark fringe. This technique is referred to as variable finesse, since the recycling cavity is considered as a variable finesse Fabry-Perot. This technique has been widely tested and allows us to reach the dark fringe in few minutes, in an essentially deterministic way

The HIV Tat protein affects processing of ribosomal RNA precursor

<p>Abstract</p> <p>Background</p> <p>Inside the cell, the HIV Tat protein is mainly found in the nucleus and nucleolus. The nucleolus, the site of ribosome biogenesis, is a highly organized, non-membrane-bound sub-compartment where proteins with a high affinity for nucleolar components are found. While it is well known that Tat accumulates in the nucleolus via a specific nucleolar targeting sequence, its function in this compartment it still unknown.</p> <p>Results</p> <p>To clarify the significance of the Tat nucleolar localization, we induced the expression of the protein during oogenesis in <it>Drosophila melanogaster </it>strain transgenic for HIV-<it>tat </it>gene. Here we show that Tat localizes in the nucleoli of <it>Drosophila </it>oocyte nurse cells, where it specifically co-localizes with fibrillarin. Tat expression is accompanied by a significant decrease of cytoplasmic ribosomes, which is apparently related to an impairment of ribosomal rRNA precursor processing. Such an event is accounted for by the interaction of Tat with fibrillarin and U3 snoRNA, which are both required for pre-rRNA maturation.</p> <p>Conclusion</p> <p>Our data contribute to understanding the function of Tat in the nucleolus, where ribosomal RNA synthesis and cell cycle control take place. The impairment of nucleolar pre-rRNA maturation through the interaction of Tat with fibrillarin-U3snoRNA complex suggests a process by which the virus modulates host response, thus contributing to apoptosis and protein shut-off in HIV-uninfected cells.</p

A simple line detection algorithm applied to Virgo data

International audienceWe propose a new method for the detection of spectral lines in random noise. It mimics the processing scheme of matching filtering, i.e., a whitening procedure combined with the measurement of the correlation between the data and a template. Thanks to the original noise spectrum estimate used in the whitening procedure, the algorithm can easily be tuned to various types of noise. It can thus be applied to the data taken from a wide class of sensors. This versatility and its small computational cost make this method particularly well suited for real-time monitoring in gravitational wave experiments. We show the results of its application to Virgo C4 commissioning data

A first study of environmental noise coupling to the Virgo interferometer

International audienceDuring the commissioning of the Virgo interferometer, a search for environmental noise contributions to the dark fringe signal was undertaken. Dedicated tests have been performed to identify major sources of disturbances and to understand the coupling mechanism with the interferometer. The major effect is due to seismic/acoustic noise coupling to the laser beam before the input mode cleaner, then propagating as beam power noise to the ITF dark fringe output signal. In this paper we illustrate the tests performed and preliminary results of our investigation

A first test of a sine-Hough method for the detection of pulsars in binary systems using the E4 Virgo engineering run data

Most of the known pulsars with frequencies lying in the best sensitivity range of the Virgo/LIGO/TAMA interferometers belong to binary systems. Accordingly their frequencies are Doppler shifted in an unknown way. We investigate a new method to search for and extract the parameters of such pulsars. A first preliminary test of this method, performed on the Virgo data recorded during the E4 engineering run, is presented

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to hemoglobinopathies and thalassemia and implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories. A total of 1,941 unique genetic variants in 37 genes, encoding globins and other erythroid proteins, are currently documented in these databases, with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants, leading to a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The principles established here will serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases

The Virgo 3 km interferometer for gravitational wave detection

Virgo, designed, constructed and developed by the French-Italian VIRGO collaboration located in Cascina (Pisa, Italy) and aiming to detect gravitational waves, is a ground-based power recycled Michelson interferometer, with 3 km long suspended Fabry-Perot cavities. The first Virgo scientific data-taking started in mid-May 2007, in coincidence with the corresponding LIGO detectors. The optical scheme of the interferometer and the various optical techniques used in the experiment, such as the laser source, control, alignment, stabilization and detection strategies are outlined. The future upgrades that are planned for Virgo from the optical point of view, especially concerning the evolution of the Virgo laser, are presented. Finally, the next generation of the gravitational wave detector (advanced Virgo) is introduced from the point of view of the laser system

Tracker Operation and Performance at the Magnet Test and Cosmic Challenge

During summer 2006 a fraction of the CMS silicon strip tracker was operated in a comprehensive slice test called the Magnet Test and Cosmic Challenge (MTCC). At the MTCC, cosmic rays detected in the muon chambers were used to trigger the readout of all CMS sub-detectors in the general data acquisition system and in the presence of the 4 T magnetic field produced by the CMS superconducting solenoid. This document describes the operation of the Tracker hardware and software prior, during and after data taking. The performance of the detector as resulting from the MTCC data analysis is also presented